TBL1Y: a new gene involved in syndromic hearing loss

Mariateresa Di Stazio; Chiara Collesi; Diego Vozzi; Wei Liu; Mike Myers; Anna Morgan; Pio Adamo D′Adamo; Giorgia Girotto; Elisa Rubinato; Mauro Giacca; Paolo Gasparini

doi:10.1038/s41431-018-0282-4

TBL1Y: a new gene involved in syndromic hearing loss

Mariateresa Di Stazio^*, Chiara Collesi, Diego Vozzi, Wei Liu, Mike Myers, Anna Morgan, Pio Adamo D′Adamo, Giorgia Girotto, Elisa Rubinato, Mauro Giacca, Paolo Gasparini

^*Corresponding author for this work

Cardiovascular Medicine & Sciences

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Abstract

Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.

Original language	English
Pages (from-to)	466-474
Number of pages	9
Journal	European Journal of Human Genetics
Volume	27
Issue number	3
Early online date	19 Oct 2018
DOIs	https://doi.org/10.1038/s41431-018-0282-4
Publication status	Published - 1 Mar 2019

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title = "TBL1Y: a new gene involved in syndromic hearing loss",

abstract = "Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.",

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AU - Di Stazio, Mariateresa

AU - Collesi, Chiara

AU - Vozzi, Diego

AU - Liu, Wei

AU - Myers, Mike

AU - Morgan, Anna

AU - D′Adamo, Pio Adamo

AU - Girotto, Giorgia

AU - Rubinato, Elisa

AU - Giacca, Mauro

AU - Gasparini, Paolo

PY - 2019/3/1

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N2 - Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.

AB - Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.

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TBL1Y: a new gene involved in syndromic hearing loss

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